Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

James D Fackenthal; Toshio Yoshimatsu; Bifeng Zhang; Gorka R de Garibay; Mara Colombo; Giovanna De Vecchi; Samantha C Ayoub; Kumar Lal; Olufunmilayo I Olopade; Ana Vega; Marta Santamariña; Ana Blanco; Barbara Wappenschmidt; Alexandra Becker; Claude Houdayer; Logan C Walker; Irene López-Perolio; Mads Thomassen; Michael Parsons; Phillip Whiley; Marinus J Blok; Rita D Brandão; Demis Tserpelis; Diana Baralle; Gemma Montalban; Sara Gutiérrez-Enríquez; Orland Díez; Conxi Lazaro; kConFaB Investigators; Amanda B Spurdle; Paolo Radice; Miguel de la Hoya

doi:10.1136/jmedgenet-2015-103570

Article info

Cancer genetics

Original article

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Authors

James D Fackenthal Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Toshio Yoshimatsu Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Bifeng Zhang Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Gorka R de Garibay Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Mara Colombo Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy PubMed articles Google scholar articles
Giovanna De Vecchi Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy PubMed articles Google scholar articles
Samantha C Ayoub Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Kumar Lal Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Olufunmilayo I Olopade Department of Medicine, University of Chicago, Chicago, Illinois, USA PubMed articles Google scholar articles
Ana Vega Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain PubMed articles Google scholar articles
Marta Santamariña Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain PubMed articles Google scholar articles
Ana Blanco Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain PubMed articles Google scholar articles
Barbara Wappenschmidt Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany PubMed articles Google scholar articles
Alexandra Becker Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany PubMed articles Google scholar articles
Claude Houdayer Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France PubMed articles Google scholar articles
Logan C Walker Department of Pathology, University of Otago, Christchurch, New Zealand PubMed articles Google scholar articles
Irene López-Perolio Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain PubMed articles Google scholar articles
Mads Thomassen Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark PubMed articles Google scholar articles
Michael Parsons Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Phillip Whiley Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Marinus J Blok Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands PubMed articles Google scholar articles
Rita D Brandão Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands PubMed articles Google scholar articles
Demis Tserpelis Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands PubMed articles Google scholar articles
Diana Baralle Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK PubMed articles Google scholar articles
Gemma Montalban Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain PubMed articles Google scholar articles
Sara Gutiérrez-Enríquez Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain PubMed articles Google scholar articles
Orland Díez Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain PubMed articles Google scholar articles
Conxi Lazaro Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL–Catalan Institute of Oncology, Barcelona, Spain PubMed articles Google scholar articles
Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia Google scholar articles
Amanda B Spurdle Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Paolo Radice Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy PubMed articles Google scholar articles
Miguel de la Hoya Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain PubMed articles Google scholar articles

Correspondence to Dr James D Fackenthal, Department of Medicine, Section on Hematology/Oncology, University of Chicago, Chicago, IL 60637, USA; JimFackenthal{at}gmail.com

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Citation

Fackenthal JD, Yoshimatsu T, Zhang B, et al

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Journal of Medical Genetics 2016;53:548-558.

Publication history

Received November 17, 2015
Revised January 21, 2016
Accepted March 10, 2016
First published April 8, 2016.

Online issue publication

July 22, 2016

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